Varaico: Literature-Extracted Genetic Variants

NFATC2

203 papers

RefSeq Summary

This gene is a member of the nuclear factor of activated T cells (NFAT) family. The product of this gene is a DNA-binding protein with a REL-homology region (RHR) and an NFAT-homology region (NHR). Th...

Pfam Domains

RHD_DNA_bindaa 410–570UCSCRel homology DNA-binding domain

RHD_dimeraa 579–679UCSCRel homology dimerisation domain

Gene Aliases

HGNC Name

nuclear factor of activated T cells 2

HGNC Alias Symbols

NF-ATP; NFATp; NFAT1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_012340.5

p.E44Splc

c.130+5565A>G

Surrounding Variants

1 paper

NM_012340.5

p.P41P

c.123G>A

1 paper

NM_012340.5

p.L39*

c.116T>A

1 paper

NM_012340.5

p.L33R

c.98T>G

1 paper

NM_012340.5

p.E27V

c.80A>T

1 paper

NM_012340.5

p.G21W

c.61G>T

1 paper

NM_012340.5

p.P16R

c.47C>G

1 paper

NM_012340.5

p.G12R

c.34G>C

1 paper

NM_012340.5

p.R6W

c.16C>T

1 paper

NM_012340.5

p.P4delFs

c.12delG

1 paper

NM_012340.5

p.E5fs

c.13_14fs